Revista Cubana de Oftalmología
versão On-line ISSN 1561-3070
LEGRA NAPOLES, Seydel et al. Weill-Marchesani syndrome. Rev Cubana Oftalmol [online]. 2009, vol.22, n.2, pp. 151-158. ISSN 1561-3070.
Weil Marchesani syndrome is a rare genetic disorder of the connective tissue with ocular effect. Since the description of this disease by Weill and Marchesani in 1932 and 1939 respectively, patterns of autosomal dominant and recessive inheritance have been outlined. In general, these patients are characterized by small size, brachydactilia, joint rigidity, microspherophakia, progressive lenticular myopia, crystalline luxation and secondary glaucoma. This paper presented the ophthalmologic and clinical characteristics of a female patient who was diagnosed with this genetic syndrome. She came from a four-member family in which one of them presented with similar characteristics (father); there were not associated cardiovascular malformations, but self-attack history was included. The ophthalmologist's performance in the early diagnosis and management of the disease is of vital importance, because in this way, visual rehabilitation could be materialized, with subsequent incorporation to socially useful life.
Palavras-chave : Weill Marchesani syndrome; Weil Marchesani syndrome; multiple anomalies; systemic and ophthalmologic anomalies.